Canonical Allele Identifier: CA2202936576

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736683C= , CM000678.2:g.3736683C=	GRCh38
NC_000016.9:g.3786684C= , CM000678.1:g.3786684C=	GRCh37
NC_000016.8:g.3726685C=	NCBI36
NG_009873.1:g.148438G=
NG_009873.2:g.149031G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4527G= MANE Select	ENSP00000262367.5:p.Lys1509=
ENST00000262367.9:c.4527G=	ENSP00000262367.5:p.Lys1509=
ENST00000382070.7:c.4413G=	ENSP00000371502.3:p.Lys1471=
ENST00000570939.2:c.3162G=	ENSP00000461002.2:p.Lys1054=
ENST00000571763.5:n.317G=
ENST00000574740.1:n.348G=
ENST00000576720.1:n.3350G=
NM_001079846.1:c.4413G=	NP_001073315.1:p.Lys1471=
NM_004380.2:c.4527G=	NP_004371.2:p.Lys1509=
XM_005255124.3:c.4482G=	XP_005255181.1:p.Lys1494=
XM_005255125.3:c.4110G=	XP_005255182.1:p.Lys1370=
XM_006720848.2:c.4266G=	XP_006720911.1:p.Lys1422=
XM_011522380.1:c.4473G=	XP_011520682.1:p.Lys1491=
XM_011522381.1:c.3774G=	XP_011520683.1:p.Lys1258=
XM_005255124.4:c.4482G=	XP_005255181.1:p.Lys1494=
XM_005255125.4:c.4110G=	XP_005255182.1:p.Lys1370=
XM_006720848.3:c.4266G=	XP_006720911.1:p.Lys1422=
XM_011522381.2:c.3774G=	XP_011520683.1:p.Lys1258=
XM_017022944.1:c.4521G=	XP_016878433.1:p.Lys1507=
NM_004380.3:c.4527G= MANE Select	NP_004371.2:p.Lys1509=